Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 13 for Progressive myoclonic epilepsy type 8
Did you mean Progressive mayoclinic epilepsy type 8?
  1. Progressive myoclonic epilepsy type 1 
    ... Testing Registry: Unverricht-Lundborg syndrome Progressive myoclonic ... 2000 Jan 25;242(1-2):65-73. doi: 10.1016/s0378-1119(99)00550-8. Citation on PubMed Alakurtti K, Weber E, Rinne ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  2. Lafora progressive myoclonus epilepsy 
    ... type progressive myoclonic epilepsy Myoclonic epilepsy of Lafora Progressive myoclonic epilepsy type 2 Progressive myoclonus epilepsy, Lafora type Genetic Testing ...
    https://medlineplus.gov/.../lafora-progressive-myoclonus-epilepsy - Genetics
  3. CSTB gene 
    ... or three times. However, in most people with progressive myoclonic epilepsy type 1, this sequence is repeated more than 30 ... 000072857. Citation on PubMed Lehesjoki AE, Kalviainen R. Progressive Myoclonic Epilepsy Type 1. 2004 Jun 24 [updated 2020 Jul 2]. ...
    https://medlineplus.gov/genetics/gene/cstb - Genetics
  4. CLN8 disease 
    ... epilepsy variant Genetic Testing Registry: Neuronal ceroid lipofuscinosis 8 Progressive epilepsy-intellectual disability syndrome, Finnish type National Organization for Rare Disorders (NORD) ClinicalTrials.gov ...
    https://medlineplus.gov/genetics/condition/cln8-disease - Genetics
  5. Spinal muscular atrophy with progressive myoclonic epilepsy 
    ... Sarappa C, Striano S. Spinal muscular atrophy and progressive myoclonic epilepsy: one case report and characteristics of the epileptic syndrome. Seizure. 2004 Dec;13(8):582-6. doi: 10.1016/j.seizure.2004. ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
  6. Spinal muscular atrophy 
    ... neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes. ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  7. MT-TS1 gene 
    The MT-TS1 gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  8. Asparagine synthetase deficiency 
    ... quadriplegia). Many affected individuals also have recurrent seizures (epilepsy). Not ... or abnormal muscle contraction (tonic). People with asparagine ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  9. CLN4 disease 
    ... disease often develop seizures and uncontrollable muscle jerks (myoclonic epilepsy), a decline in intellectual function (dementia), problems with ...
    https://medlineplus.gov/genetics/condition/cln4-disease - Genetics
  10. Mitochondrial DNA 
    ... TS1, can cause the signs and symptoms of myoclonic epilepsy with ragged-red fibers (MERRF). These genes provide ... lead to the specific signs and symptoms of progressive external ophthalmoplegia. More ... mutations, which are a type of noninherited mutation. Somatic mutations occur in the ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
previous · 1 · 2 · next